Homo sapiens Gene: GRID2 | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||||
InnateDB Gene | IDBG-30249.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | GRID2 | ||||||||||||||||||||||||
Gene Name | glutamate receptor, ionotropic, delta 2 | ||||||||||||||||||||||||
Synonyms | GluD2 | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Gene | ENSG00000152208 | ||||||||||||||||||||||||
Encoded Proteins |
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
|
||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||
Summary |
Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. A point mutation in mouse GRID2, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This strongly suggests a role for GRID2 in neuronal apoptotic death. [provided by RefSeq, Jul 2008] The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named \'lurcher\', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014] |
||||||||||||||||||||||||
Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 4:92304399-93774556 | ||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||
Band | q22.1 | ||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
|
||||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
|
Gene ID
Gene Order
|
||||||||||||||||||||||||
Pathways | |||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||
REACTOME | |||||||||||||||||||||||||
KEGG |
Neuroactive ligand-receptor interaction pathway
Long-term depression pathway
|
||||||||||||||||||||||||
INOH | |||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||
UniGene | Hs.162727 Hs.480281 | ||||||||||||||||||||||||
RefSeq | NM_001286838 NM_001510 | ||||||||||||||||||||||||
HUGO | |||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||
CCDS | CCDS3637 CCDS68758 | ||||||||||||||||||||||||
HPRD | 06781 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | |||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||||